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Aliases for ARHGEF1 Gene

Aliases for ARHGEF1 Gene

  • Rho Guanine Nucleotide Exchange Factor (GEF) 1 2 3
  • 115 KDa Guanine Nucleotide Exchange Factor 3 4
  • P115-RHOGEF 3 4
  • P115RhoGEF 3 4
  • SUB1.5 3 4
  • LBCL2 3 6
  • Rho Guanine Nucleotide Exchange Factor 1 3
  • 115-KD Protein 3
  • Lsc Homolog 3
  • GEF1 3
  • LSC 3

External Ids for ARHGEF1 Gene

Summaries for ARHGEF1 Gene

Entrez Gene Summary for ARHGEF1 Gene

  • Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]

GeneCards Summary for ARHGEF1 Gene

ARHGEF1 (Rho Guanine Nucleotide Exchange Factor (GEF) 1) is a Protein Coding gene. Diseases associated with ARHGEF1 include skin lipoma. Among its related pathways are Signaling by FGFR and RhoGDI Pathway. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF11.

UniProtKB/Swiss-Prot for ARHGEF1 Gene

  • Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits. Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain. This GEF activity is inhibited by binding to activated GNA12. Mediates angiotensin-2-induced RhoA activation.

Gene Wiki entry for ARHGEF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF1 Gene

Genomics for ARHGEF1 Gene

Genomic Location for ARHGEF1 Gene

Start:
41,883,161 bp from pter
End:
41,930,150 bp from pter
Size:
46,990 bases
Orientation:
Plus strand

Genomic View for ARHGEF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARHGEF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF1 Gene

Regulatory Elements for ARHGEF1 Gene

Transcription factor binding sites by QIAGEN in the ARHGEF1 gene promoter:

Proteins for ARHGEF1 Gene

  • Protein details for ARHGEF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92888-ARHG1_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 1
    Protein Accession:
    Q92888
    Secondary Accessions:
    • O00513
    • Q6NX52
    • Q8N4J4
    • Q96BF4
    • Q96F17
    • Q9BSB1

    Protein attributes for ARHGEF1 Gene

    Size:
    912 amino acids
    Molecular mass:
    102435 Da
    Quaternary structure:
    • Interacts with RHOA, GNA12 and GNA13. Homooligomerizes through the coiled coil region. May interact with CCPG1 (By similarity). Interacts with CTNNAL1.
    SequenceCaution:
    • Sequence=CAA70356.1; Type=Frameshift; Positions=904; Evidence={ECO:0000305}; Sequence=CAA70356.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGEF1 Gene

    Alternative splice isoforms for ARHGEF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGEF1 Gene

Proteomics data for ARHGEF1 Gene at MOPED

Post-translational modifications for ARHGEF1 Gene

  • Phosphorylated by PKCA. Angiotensin-2 induced Tyr-738 phosphorylation is mediated by JAK2.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys510, Lys567, and Lys701

No data available for DME Specific Peptides for ARHGEF1 Gene

Domains for ARHGEF1 Gene

Gene Families for ARHGEF1 Gene

HGNC:
  • ARHGEF :Rho guanine nucleotide exchange factors

Protein Domains for ARHGEF1 Gene

UniProtKB/Swiss-Prot:

ARHG1_HUMAN
Domain:
  • The RGSL domain, also known as rgRGS domain, is necessary but not sufficient for GAP activity:
    • Q92888
  • The DH domain is involved in interaction with CCPG1.:
    • Q92888
  • Contains 1 DH (DBL-homology) domain.:
    • Q92888
  • Contains 1 PH domain.:
    • Q92888
  • Contains 1 RGSL (RGS-like) domain.:
    • Q92888
genes like me logo Genes that share domains with ARHGEF1: view

Function for ARHGEF1 Gene

Molecular function for ARHGEF1 Gene

UniProtKB/Swiss-Prot Function: Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits. Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain. This GEF activity is inhibited by binding to activated GNA12. Mediates angiotensin-2-induced RhoA activation.

Gene Ontology (GO) - Molecular Function for ARHGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 12681510
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with ARHGEF1: view
genes like me logo Genes that share phenotypes with ARHGEF1: view

Animal Models for ARHGEF1 Gene

MGI Knock Outs for ARHGEF1:

miRNA for ARHGEF1 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ARHGEF1 Gene

Localization for ARHGEF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF1 Gene

Cytoplasm. Membrane. Note=Translocated to the membrane by activated GNA13 or LPA stimulation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARHGEF1 Gene COMPARTMENTS Subcellular localization image for ARHGEF1 gene
Compartment Confidence
cytosol 4
plasma membrane 4
nucleus 3
chloroplast 2
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ARHGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with ARHGEF1: view

Pathways for ARHGEF1 Gene

genes like me logo Genes that share pathways with ARHGEF1: view

Gene Ontology (GO) - Biological Process for ARHGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007266 Rho protein signal transduction TAS 10747909
GO:0008283 cell proliferation TAS 8810315
GO:0035023 regulation of Rho protein signal transduction --
GO:0038032 termination of G-protein coupled receptor signaling pathway IEA --
GO:0043547 positive regulation of GTPase activity TAS 8810315
genes like me logo Genes that share ontologies with ARHGEF1: view

Compounds for ARHGEF1 Gene

(3) HMDB Compounds for ARHGEF1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1

(3) Novoseek inferred chemical compound relationships for ARHGEF1 Gene

Compound -log(P) Hits PubMed IDs
gtp 46.1 1
arginine 41.5 11
tyrosine 0.436 1
genes like me logo Genes that share compounds with ARHGEF1: view

Transcripts for ARHGEF1 Gene

Unigene Clusters for ARHGEF1 Gene

Rho guanine nucleotide exchange factor (GEF) 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^
SP1: - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: - - - - - -
SP5: -
SP6: - - - - -
SP7: - - - -
SP8:
SP9:
SP10:
SP11: -
SP12: - - - - -

ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1: -
SP2: -
SP3: -
SP4: - -
SP5: - -
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ARHGEF1 Gene

GeneLoc Exon Structure for
ARHGEF1
ECgene alternative splicing isoforms for
ARHGEF1

Expression for ARHGEF1 Gene

mRNA expression in normal human tissues for ARHGEF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARHGEF1 Gene

This gene is overexpressed in Whole Blood (9.4) and Spleen (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ARHGEF1 Gene

SOURCE GeneReport for Unigene cluster for ARHGEF1 Gene Hs.631550

mRNA Expression by UniProt/SwissProt for ARHGEF1 Gene

Q92888-ARHG1_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expressions with ARHGEF1: view

Orthologs for ARHGEF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARHGEF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGEF1 36
  • 95.42 (n)
  • 94.43 (a)
ARHGEF1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARHGEF1 36
  • 86.26 (n)
  • 84.84 (a)
ARHGEF1 37
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 86 (a)
OneToMany
-- 37
  • 86 (a)
OneToMany
ARHGEF1 36
  • 85.45 (n)
  • 85.96 (a)
mouse
(Mus musculus)
Mammalia Arhgef1 36
  • 86.11 (n)
  • 89.11 (a)
Arhgef1 16
Arhgef1 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 7 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF1 37
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgef1 36
  • 85.65 (n)
  • 89.37 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 16 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef1 36
  • 61.33 (n)
  • 56.85 (a)
zebrafish
(Danio rerio)
Actinopterygii arhgef1b 37
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RhoGEF2 37
  • 9 (a)
OneToMany
RhoGEF2 38
  • 36 (a)
worm
(Caenorhabditis elegans)
Secernentea rhgf-1 37
  • 17 (a)
OneToMany
F13E6.6 38
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ROM1 37
  • 10 (a)
ManyToMany
ROM2 37
  • 9 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 23 (a)
OneToMany
Species with no ortholog for ARHGEF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARHGEF1 Gene

ENSEMBL:
Gene Tree for ARHGEF1 (if available)
TreeFam:
Gene Tree for ARHGEF1 (if available)

Paralogs for ARHGEF1 Gene

genes like me logo Genes that share paralogs with ARHGEF1: view

Variants for ARHGEF1 Gene

Sequence variations from dbSNP and Humsavar for ARHGEF1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs717225 -- 41,889,215(-) AGAGT(C/T)CACGG intron-variant
rs882520 -- 41,885,213(+) CCCCA(A/T)ACCCC intron-variant
rs891167 -- 41,883,736(+) ACAAC(A/G)ATAAC intron-variant, upstream-variant-2KB
rs891168 -- 41,885,182(+) CACCT(A/G)TAATT intron-variant
rs1131874 -- 41,905,253(+) CCCAG(C/G)CCGAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ARHGEF1 Gene

Variant ID Type Subtype PubMed ID
nsv522854 CNV Gain 19592680
dgv3882n71 CNV Loss 21882294
dgv3883n71 CNV Loss 21882294
nsv520239 CNV Loss 19592680
esv2718581 CNV Deletion 23290073
nsv911779 CNV Loss 21882294
esv2399724 CNV Deletion 18987734
esv2672585 CNV Deletion 23128226
esv2660933 CNV Deletion 23128226
esv2718582 CNV Deletion 23290073
esv2718583 CNV Deletion 23290073
esv22227 CNV Loss 19812545
nsv820680 CNV Deletion 20802225
esv2718586 CNV Deletion 23290073
esv2227579 CNV Deletion 18987734

Relevant External Links for ARHGEF1 Gene

HapMap Linkage Disequilibrium report
ARHGEF1

Disorders for ARHGEF1 Gene

(1) MalaCards Diseases for ARHGEF1 Gene

Search for ARHGEF1 Gene in MalaCards »

(4) University of Copenhagen DISEASES for ARHGEF1 Gene

(1) Novoseek inferred disease relationships for ARHGEF1 Gene

Disease -log(P) Hits PubMed IDs
breast cancer 0 1

Relevant External Links for ARHGEF1

Genetic Association Database (GAD)
ARHGEF1
Human Genome Epidemiology (HuGE) Navigator
ARHGEF1
genes like me logo Genes that share disorders with ARHGEF1: view

No data available for UniProtKB/Swiss-Prot for ARHGEF1 Gene

Publications for ARHGEF1 Gene

  1. Characterization, expression and chromosomal localization of a human gene homologous to the mouse Lsc oncogene, with strongest expression in hematopoetic tissues. (PMID: 9135076) Aasheim H.-C. … Smeland E.B. (Oncogene 1997) 2 3 4 23
  2. p115 RhoGEF, a GTPase activating protein for Galpha12 and Galpha13. (PMID: 9641915) Kozasa T. … Sternweis P.C. (Science 1998) 3 4 23
  3. Direct stimulation of the guanine nucleotide exchange activity of p115 RhoGEF by Galpha13. (PMID: 9641916) Hart M.J. … Bollag G. (Science 1998) 3 4 23
  4. Structure of the rgRGS domain of p115RhoGEF. (PMID: 11524686) Chen Z. … Sprang S.R. (Nat. Struct. Biol. 2001) 3 4 23
  5. Identification of a novel guanine nucleotide exchange factor for the rho GTPase. (PMID: 8810315) Hart M.J. … Bollag G. (J. Biol. Chem. 1996) 2 3 4

Products for ARHGEF1 Gene

Sources for ARHGEF1 Gene

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